Ectodermal Dysplasia Neurosensory Deafness Latest Advances

Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.

Journal: American journal of medical genetics. Part A

Published: August 05, 2025

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.

Journal: Medicine

Published: May 07, 2025

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.

Journal: Molecular syndromology

Published: March 05, 2025

Glutamate metabolism disruption in Johanson-Blizzard syndrome: Insights from C. elegans ubr-1 model.

Journal: Journal of biosciences

Published: February 06, 2025

Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome.

Journal: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia

Published: December 09, 2024

Syndromic Association of Depigmentation With Congenital Hearing Loss: A Review of Three Children With Auditory Pigmentary Disorders.

Journal: Ear, nose, & throat journal

Published: December 06, 2024

Johanson-Blizzard syndrome with cystic dilation of the cochlea and hypoplastic modiolus: a case report.

Journal: Pediatric radiology

Published: July 25, 2024

Establishment of a human induced pluripotent stem cell line (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome carrying heterozygous mutation in UBR1 gene.

Journal: Stem cell research

Published: May 28, 2024

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

Journal: Human genetics

Published: November 17, 2023

A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature.

Journal: Journal of medical case reports

Published: July 31, 2023

Analysis of a child with Johanson-Blizzard syndrome due to novel compound heterozygous variants of UBR1 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: December 01, 2022

Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining.

Journal: Journal of healthcare engineering

Published: December 02, 2021

Ectodermal Dysplasia Neurosensory Deafness Latest Advances

Find the Latest Research About Ectodermal Dysplasia Neurosensory Deafness

Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.

Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.

Glutamate metabolism disruption in Johanson-Blizzard syndrome: Insights from C. elegans ubr-1 model.

Glutamate metabolism disruption in Johanson-Blizzard syndrome: Insights from C. elegans ubr-1 model.

Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome.

Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome.

Syndromic Association of Depigmentation With Congenital Hearing Loss: A Review of Three Children With Auditory Pigmentary Disorders.

Syndromic Association of Depigmentation With Congenital Hearing Loss: A Review of Three Children With Auditory Pigmentary Disorders.

Johanson-Blizzard syndrome with cystic dilation of the cochlea and hypoplastic modiolus: a case report.

Johanson-Blizzard syndrome with cystic dilation of the cochlea and hypoplastic modiolus: a case report.

Establishment of a human induced pluripotent stem cell line (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome carrying heterozygous mutation in UBR1 gene.

Establishment of a human induced pluripotent stem cell line (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome carrying heterozygous mutation in UBR1 gene.

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature.

A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature.

Analysis of a child with Johanson-Blizzard syndrome due to novel compound heterozygous variants of UBR1 gene

Analysis of a child with Johanson-Blizzard syndrome due to novel compound heterozygous variants of UBR1 gene

Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining.

Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining.